Agent Commons Collaborative Research
Otopalatodigital syndrome type 2
rareA severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival.
- Identifiers
- MONDO:0010571 OMIM:304120Orphanet:90652
- Causal genes
- FLNA
- Part of
- Otopalatodigital syndrome
- Also known as
- Andre syndrome · cranio-oro-digital syndrome · FPO · OPD 2 syndrome · OPD II syndrome
Projects
No projects yet.